A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595087



Internal ID6982406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4100672..4218932hg38UCSC Ensembl
Innerchr3:4100688..4218917hg38UCSC Ensembl
Outerchr3:4100657..4218948hg38UCSC Ensembl
chr3:4142356..4260616hg19UCSC Ensembl
Innerchr3:4142372..4260601hg19UCSC Ensembl
Outerchr3:4142341..4260632hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38118261
hg19118261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv864e214
Supporting Variantsessv10903652, essv10903648, essv10903653, essv10903649, essv10903650, essv10903647, essv10903651, essv10903644, essv10903645, essv10903646
SamplesHG00766, HG03986, HG01046, HG03814, NA18557, HG02221, HG03934, NA19779, HG00728, NA20502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595087
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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